Immunoglobulin Gene Rearrangements

2001 ◽  
Author(s):  
Michael Lieber
Keyword(s):  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Immunoglobulin Gene Rearrangements

scholarly journals N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements

Blood ◽  
2000 ◽  
Vol 96 (1) ◽  
pp. 203-209 ◽  
Author(s):  
Jeroen G. Noordzij ◽  
Nicole S. Verkaik ◽  
Nico G. Hartwig ◽  
Ronald de Groot ◽  
Dik C. van Gent ◽  
...  
Keyword(s):  
T Cell ◽  
Gene Mutation ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Premature Stop Codon ◽  
Cell Receptor ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Rag1 Gene ◽  
Immunoglobulin Gene Rearrangements

The proteins encoded by RAG1 and RAG2 can initiate gene recombination by site-specific cleavage of DNA in immunoglobulin and T-cell receptor (TCR) loci. We identified a new homozygous RAG1 gene mutation (631delT) that leads to a premature stop codon in the 5′ part of the RAG1 gene. The patient carrying this 631delT RAG1 gene mutation died at the age of 5 weeks from an Omenn syndrome-like T+/B−severe combined immunodeficiency disease. The high number of blood T-lymphocytes (55 × 106/mL) showed an almost polyclonal TCR gene rearrangement repertoire not of maternal origin. In contrast, B-lymphocytes and immunoglobulin gene rearrangements were hardly detectable. We showed that the 631delT RAG1 gene can give rise to an N-terminal truncated RAG1 protein, using an internal AUG codon as the translation start site. Consistent with the V(D)J recombination in T cells, this N-terminal truncated RAG1 protein was active in a plasmid V(D)J recombination assay. Apparently, the N-terminal truncated RAG1 protein can recombine TCR genes but not immunoglobulin genes. We conclude that the N-terminus of the RAG1 protein is specifically involved in immunoglobulin gene rearrangements.

scholarly journals A single pre-B cell can give rise to antigen-specific B cells that utilize distinct immunoglobulin gene rearrangements.

1990 ◽  
Vol 172 (3) ◽  
pp. 815-825 ◽  
Author(s):  
A J Caton
Keyword(s):  
B Cells ◽  
B Cell ◽  
Cell Clone ◽  
Gene Segment ◽  
Chain Gene ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Immune Repertoire ◽  
Influenza Virus Hemagglutinin ◽  
Immunoglobulin Gene Rearrangements

A group of hybridomas that express antibodies with related specificities for the influenza virus hemagglutinin (HA), that represent B cells that were the clonal progeny of a single pre-B cell, and that utilized distinct L chain gene rearrangements have been characterized. The clonal relationship was established by the sharing of H chain gene rearrangements at both the productive and the nonproductive alleles. Among these hybridomas, one group had rearranged only one of its kappa alleles, having joined a V kappa 24 gene to the J kappa 2 gene segment. The other group utilized the same V kappa 24 gene segment in productive rearrangement to the J kappa 5 gene segment, and shared an aberrant rearrangements among members of the same B cell clone can normally occur, and can contribute to the generation and diversification of the immune repertoire that is available for the recognition of foreign antigens. Mechanisms by which the distinct rearrangements expressed by the hybridomas might have been generated are discussed.

scholarly journals Mutation Status and Immunoglobulin Gene Rearrangements in Patients from Northwest and Central Region of Spain with Chronic Lymphocytic Leukemia

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
I. González-Gascón y Marín ◽  
J. A. Hernández ◽  
A. Martín ◽  
M. Alcoceba ◽  
M. E. Sarasquete ◽  
...  
Keyword(s):  
Overall Survival ◽  
Chronic Lymphocytic Leukemia ◽  
Central Region ◽  
Lymphocytic Leukemia ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Mutation Status ◽  
Almost All ◽  
Time To First Treatment ◽  
Immunoglobulin Gene Rearrangements

The aim of this study was to investigate the frequency and mutation status of the immunoglobulin heavy variable chain (IGHV) in a cohort of 224 patients from northwest and central region of Spain diagnosed with chronic lymphocytic leukemia (CLL), and to correlate it with cytogenetic abnormalities, overall survival (OS) and time to first treatment (TTFT). 125 patients had mutated IGHV, while 99 had unmutated IGHV. The most frequently used IGHV family was IGHV3, followed by IGHV1 and IGHV4. The regions IGHV3-30, IGHV1-69, IGHV3-23, and IGHV4-34 were the most commonly used. Only 3.1% of the patients belonged to the subfamily IGHV3-21 and we failed to demonstrate a worse clinical outcome in this subgroup. The IGHV4 family appeared more frequently with mutated pattern, similar to IGHV3-23 and IGHV3-74. By contrast, IGHV1-69 was expressed at a higher frequency in unmutated CLL patients. All the cases from IGHV3-11 and almost all from IGHV5-51 subfamily belonged to the group of unmutated CLL.

Hepatitis C Virus and Immunoglobulin Gene Rearrangements: An Early Step in Lymphomagenesis?

1998 ◽  
Vol 100 (3) ◽  
pp. 117-122 ◽  
Author(s):  
G.F. Santini ◽  
M. Crovatto ◽  
F. Giannini ◽  
M.T. Bortolin ◽  
C. Mazzaro ◽  
...  
Keyword(s):  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Gene Rearrangements ◽  
Immunoglobulin Gene ◽  
Early Step ◽  
Immunoglobulin Gene Rearrangements
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